Open AccessProgressive Microcephaly, Spasticity and Development Delay: Novel SLC1A4 Variants in Two Portuguese Families and Literature Review
Author(s) -
Joana Teixeira
Publication year - 2020
Publication title -
hsoa journal of genetics and genomic sciences
Language(s) - English
Resource type - Journals
ISSN - 2574-2485
DOI - 10.24966/ggs-2485/100017
Subject(s) - microcephaly , spasticity , tetraplegia , medicine , spastic quadriplegia , pediatrics , encephalopathy , physical medicine and rehabilitation , cerebral palsy , psychology , psychiatry , spinal cord , spinal cord injury
Our results support the deleterious role of SLC1A4 variants and highlight the need of considering this entity, regardless of ethnicity, in pediatric patients presenting with unexplained neurodevelopmental delay and progressive microcephaly, associated or not with spastic tetraplegia or early onset epileptic encephalopathy.